Elizabeth C. Chao, MD

Picture of Elizabeth C. Chao, MD
Assistant Professor, Division of Genetic and Genomics, Pediatrics
School of Medicine
Director, Molecular Genetics
School of Medicine
M.D., University of California, Irvine
FACMG, Children's Hospital of Philadelphia
Phone: 714-456-5792
Fax: 714-456-5330
Email: ecchao@uci.edu
University of California, Irvine

Research Interests
Clinical Genomics, Whole Exome Seqeuncing, Variant classification, Cancer Genetics
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E.
JAMA Netw Open. 2019 Oct 2;2(10)
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE.
Genet Med. 2020 Apr;22(4):701-708.
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, Chao EC, Lu HM, Black MH, Qian D.
Sci Rep. 2019 Sep 4;9(1):12752
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
Genet Med. 2020 Feb;22(2):407-415.
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH.
J Med Genet. 2020 Jan;57(1):62-69
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee.
Genet Med. 2019 Jun;21(6):1267-1270.
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
J Natl Cancer Inst. 2018 Aug 1;110(8):863-870
Somatic TP53 variants frequently confound germ-line testing results.
Chao EC, Weitzel JN, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K.
Genet Med. 2018 Aug;20(8):809-816.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL.
Genet Med. 2017 Oct;19(10):1096-1104
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC.
PLoS One. 2017 Feb 2;12(2):e0170843
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.
Hernandez F, Huether R, Carter L, Johnston T, Thompson J, Gossage JR, Chao E, Elliott AM.
Hum Genome Var. 2015 Nov 5;2:15040
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S.
Genet Med. 2015 Jul;17(7):578-86.
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.
Genet Med. 2014 Nov;16(11):830-7
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.
Genet Med. 2014 Nov;16(11):830-7
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A.
Hum Genet. 2010 Jul;128(1):61-77
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM.
Hum Mutat. 2008 Jun;29(6):852-60
Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis.
Chao EC, Lipkin SM.
Nucleic Acids Res. 2006 Feb 6;34(3):840-52
Impact of DNA amplification on gene expression patterns in breast cancer.
Chao E, Kauraniemi P, Hautaniemi S, Wolf M, Mousses S, Rozenblum E, Ringnér M, Sauter G, Monni O, Elkahloun A, Kallioniemi OP, Kallioniemi A.
Cancer Res. 2002 Nov 1;62(21):6240-5.
From chromosomal alterations to target genes for therapy: integrating cytogenetic and functional genomic views of the breast cancer genome.
Monni O, Chao E, Mousses S, Barlund M, Kallioniemi A, Kallioniemi OP.
Semin Cancer Biol. 2001 Oct;11(5):395-401
Institute for Clinical and Translational Science Pilot Grant, 2011-2013 Nucleosome-protected DNA in serum and urine as a marker of prostate malignancy and recurrence
Professional Societies
American Society for Human Genetics
Fellow, American College of Medical Genetics
Other Experience
Chief Medical Officer
Ambry Genetics 2011—2016
Graduate Programs
Medical Genetics
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